ClinVar Miner

List of variants in gene NCAPH2, SCO2, TYMP studied for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

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Total variants: 5
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HGVS dbSNP
NM_005138.2(SCO2):c.327C>T (p.His109=) rs75485962
NM_005138.2(SCO2):c.582C>T (p.Ser194=) rs131811
NM_005138.2(SCO2):c.59G>C (p.Arg20Pro) rs140523
NM_005138.2(SCO2):c.633A>C (p.Ala211=) rs12148
NM_005138.2(SCO2):c.776C>T (p.Ala259Val) rs8139305

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